Abstract

A boy, diagnosed as having Addison's disease due to idiopathic atrophy of the adrenal glands at the age of 7 years, developed the first evidence of what was originally thought to be `Schilder's disease' at 8 years and 10 months. He died at 9 years and 11 months. There was a very striking family history of autoimmune disorders on the mother's side. The clinical and pathological aspects of his case are outlined. Detailed studies of adrenal function during life showed a diminution in excretion of adrenal androgens and corticosteroids before therapy which was not evident from the 17-oxosteroid and 17-hydroxycorticosteroid assays in the resting state, though the initial diagnosis was based on the failure of ACTH to produce a rise in the 17-hydroxycorticosteroid excretion. No unusual or abnormal steroids were detected nor was there any disproportion between the androgen and corticosteroid excretion to suggest an adrenal enzyme deficiency. The biochemistry of the brain at necropsy revealed the changes expected in a demyelinating disorder, but the detection of abnormalities in the grey matter distinguished the condition from `Schilder's disease' in which the biochemistry of the grey matter is normal. There are 12 fully documented reports of boys with adrenocortical atrophy and diffuse cerebral sclerosis, and it is thought that this rare entity is inherited as an X-linked recessive characteristic. The two likely theories of causation involve either an error of metabolism common to the adrenal cortex and the brain, or the possibility that both the adrenal and brain pathology are due to an autoimmune disorder.